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Results 31-38 of 38 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.
2009SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypeSpurlock, G.; Bennett, E.; Chuzhanova, N.; Thomas, N.; H-Ping, J.; Side, L.; Davies, S.; Haan, E.; Kerr, B.; Huson, S.; Upadhyaya, M.
2003Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndromeBaumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.
2009A Novel Bocavirus Associated with Acute Gastroenteritis in Australian ChildrenArthur, J.; Higgins, G.; Davidson, G.; Givney, R.; Ratcliff, R.; Münger, K.
1996Characterization and chromosomal localization of the human A2a adenosine receptor gene - ADORA2ALe, F.; Townsend-Nicholson, A.; Baker, E.; Sutherland, G.; Schofield, P.
1995Assignment of the gene encoding human galanin receptor (GALNR) to 18q23 by in situ hybridisationNicholl, J.; Kofler, B.; Sutherland, G.; Shine, J.; Iismaa, T.
2001Isolation, tissue distribution, and chromosomal localization of a novel testis-specific human four-transmembrane gene related to CD20 and FcRI-bHulett, M.; Pagler, E.; Hornby, J.; Hogarth, P.; Eyre, H.; Baker, E.; Crawford, J.; Sutherland, G.; Ohms, S.; Parish, C.
2002A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutationShaw, M.; Chiurazzi, P.; Romain, D.; Neri, G.; Gecz, J.